Evidence map›Paper›PMID 42669680›Full record

ArticleNature communications2026

Ruxolitinib prevents irreversible autoimmune endocrinopathies in APECED.

Joseph Pechacek, Taura Webb, Lucas Dos Santos Dias, Rachel Wu, Heather Moorman, Princess Barber, Lindsey B Rosen, Peter D Burbelo, Benjamin Colton, Herodes Guzman and 11 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Joseph PechacekFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Taura WebbFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Lucas Dos Santos DiasFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Rachel WuLaboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD, USA.
Heather MoormanFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Princess BarberFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
Lindsey B RosenImmunopathogenesis Section, LCIM, NIAID, NIH, Bethesda, MD, USA.
Peter D BurbeloAdeno-Associated Virus Biology Section, National Institute of Dental and Craniofacial Research (NIDCR), NIH, Bethesda, Maryland, USA.ORCID 0000-0003-1717-048X
Benjamin ColtonPharmacy Department, NIH Clinical Center, Bethesda, Maryland, USA.
Herodes GuzmanDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-5474-3446
Maria SactaDivision of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Shana E McCormackDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Aaron BennettDivision of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kathleen LoomesDivision of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Neil RombergDivision of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-1881-5318
Niamh McGrathSchool of Public Health, University College Dublin, Dublin, Ireland.
Steven M HollandImmunopathogenesis Section, LCIM, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0003-3207-5464
Theo HellerLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, USA.ORCID 0000-0002-2643-6289
Karen K WinerPediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.ORCID 0000-0001-8261-5188
Stefania PittalugaLaboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD, USA.ORCID 0000-0001-7688-1439
Michail S LionakisFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. lionakism@mail.nih.gov.ORCID 0000-0003-4994-9500

Funding

Immunopathogenesis of Fungal InfectionsZIAAI001175 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LIONAKIS, MICHAIL · 2012 to 2025
$23.9M
Division of Intramural Research, National Institute of Allergy and Infectious Diseases (Division of Intramural Research of the NIAID) ZIA AI001175Intramural NIH HHS ZIA AI001175
6 · The paper itself

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance. Interferon-γ-driven inflammation in APECED underlies multiorgan autoimmunity and chronic mucocutaneous candidiasis and is targetable with JAK1/2 inhibition. Whether early cytokine blockade can avert irreversible endocrine failure is currently unknown. Here, we describe two individuals with APECED who developed evolving autoimmune hypoparathyroidism and hypergonadotropic hypogonadism. Treatment with the JAK1/2 inhibitor ruxolitinib halted progression and reversed biochemical and clinical abnormalities, preserving parathyroid and gonadal function. These findings provide clinical evidence that timely JAK-STAT pathway inhibition can intercept evolving endocrine autoimmunity in APECED. More broadly, they advance a disease-interception paradigm in which early, pathway-directed cytokine blockade may alter the natural history of autoimmune endocrinopathies.

Indexed as

Polyendocrinopathies, AutoimmunePyrazolesFemaleHumansHypogonadismHypoparathyroidismMaleNitrilesPyrimidinesNitrilesPyrazolesPyrimidinesruxolitinib

Identifiers

PMID42669680
PMCPMC13526882

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.